Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A

Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the F8 gene may...

Descripción completa

Detalles Bibliográficos
Autores principales: Hwang, Sung Ho, Lim, Jeong A, Kim, Hugh Chul, Lee, Hyun Woo, Kim, Hye Sun
Formato: Texto
Lenguaje:English
Publicado: Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065628/
https://www.ncbi.nlm.nih.gov/pubmed/21461305
http://dx.doi.org/10.5045/kjh.2011.46.1.49
_version_ 1782201005615611904
author Hwang, Sung Ho
Lim, Jeong A
Kim, Hugh Chul
Lee, Hyun Woo
Kim, Hye Sun
author_facet Hwang, Sung Ho
Lim, Jeong A
Kim, Hugh Chul
Lee, Hyun Woo
Kim, Hye Sun
author_sort Hwang, Sung Ho
collection PubMed
description Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the F8 gene may be correlated with the development of inhibitory autoantibodies. Direct sequencing analysis was performed on all 26 exons of the F8 gene of 2 patients exhibiting acquired HA. Both patients were found to share a common point mutation (c.8899G>A) in the 3'-untranslated region (3'-UTR) of exon 26. This is the first report on the genotyping of F8 in the context of acquired HA.
format Text
id pubmed-3065628
institution National Center for Biotechnology Information
language English
publishDate 2011
publisher Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis
record_format MEDLINE/PubMed
spelling pubmed-30656282011-03-31 Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A Hwang, Sung Ho Lim, Jeong A Kim, Hugh Chul Lee, Hyun Woo Kim, Hye Sun Korean J Hematol Case Report Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the F8 gene may be correlated with the development of inhibitory autoantibodies. Direct sequencing analysis was performed on all 26 exons of the F8 gene of 2 patients exhibiting acquired HA. Both patients were found to share a common point mutation (c.8899G>A) in the 3'-untranslated region (3'-UTR) of exon 26. This is the first report on the genotyping of F8 in the context of acquired HA. Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2011-03 2011-03-15 /pmc/articles/PMC3065628/ /pubmed/21461305 http://dx.doi.org/10.5045/kjh.2011.46.1.49 Text en © 2011 Korean Society of Hematology http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hwang, Sung Ho
Lim, Jeong A
Kim, Hugh Chul
Lee, Hyun Woo
Kim, Hye Sun
Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
title Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
title_full Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
title_fullStr Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
title_full_unstemmed Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
title_short Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
title_sort identification of a shared f8 mutation in the korean patients with acquired hemophilia a
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065628/
https://www.ncbi.nlm.nih.gov/pubmed/21461305
http://dx.doi.org/10.5045/kjh.2011.46.1.49
work_keys_str_mv AT hwangsungho identificationofasharedf8mutationinthekoreanpatientswithacquiredhemophiliaa
AT limjeonga identificationofasharedf8mutationinthekoreanpatientswithacquiredhemophiliaa
AT kimhughchul identificationofasharedf8mutationinthekoreanpatientswithacquiredhemophiliaa
AT leehyunwoo identificationofasharedf8mutationinthekoreanpatientswithacquiredhemophiliaa
AT kimhyesun identificationofasharedf8mutationinthekoreanpatientswithacquiredhemophiliaa

Ejemplares similares